BRCA1 and urinary bladder cancer: As further orthogonal validation, we directly compared mutational signature detection using (i) gold-standard high-coverage tumour-germline paired variant calling then (ii) paired variant calling using WGS of plasma and germline samples and finally (iii) MisMatchFinder for LCWGS of plasma (3×) without the matched germline sample, in a patient with bladder cancer and another patient with BRCA1-mutant breast cancer.